Varaico: Literature-Extracted Genetic Variants

Gene:MRE11
Variant:p.E494K
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MRE11

NM_005591.4:p.E494K

Associated Papers

Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.

Daugs K et al.

International Journal of Cancer, 2025

40857049 (PubMed )
Supplement: IJC-157-2447-s001.xlsx › Suppl.Tab5_187VUS_n372

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.

Pramanik R et al.

Ecancermedicalscience, 2024

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3

Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Miyashita M et al.

Breast Cancer Research : Bcr, 2023

37231433 (PubMed )
Supplement: 13058_2023_1627_MOESM4_ESM.xlsx › HR_HER2-__mutations_

Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan.

Prokofyeva DS et al.

Journal of Ovarian Research, 2023

An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.

Tarapara B et al.

Journal of Biomolecular Structure & Dynamics, 2023

Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.

Elkholi IE et al.

Scientific Reports, 2021

Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells.

McPherson MT et al.

Cancers, 2020

33339169 (PubMed )
Supplement: cancers-12-03794-s001.pdf

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Offer SM et al.

Plos One, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."